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38 results for Tyrosinemias+-+drug+therapy

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ArticlesPeer ReviewedFull Text
Recommendations for the management of tyrosinaemia type 1
Author / Creator:de Laet, Corinne ; Dionisi-Vici, Carlo ; Leonard, James V ; McKiernan, Patrick ; Mitchell, Grant ; Monti, Lidia ; de Baulny, Hélène Ogier ; Pintos-Morell, Guillem ; Spiekerkötter, Ute
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2013-01, Vol.8 (1), p.8-8, Article 8
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Evaluation of dynamic thiol/disulfide homeostasis in hereditary tyrosinemia type 1 patients
Author / Creator:Aktuglu Zeybek, Ayse Cigdem ; Kiykim, Ertugrul ; Neselioglu, Salim ; Iscan, Halise Zeynep ; Zubarioglu, Tanyel ; Cansever, Mehmet Serif ; Erel, Ozcan
Publisher:New York: Nature Publishing Group US
Journal title:Pediatric research, 2022-08, Vol.92 (2), p.474-479
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Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1
Author / Creator:van Ginkel, Willem G. ; Rodenburg, Iris L. ; Harding, Cary O. ; Hollak, Carla E. M. ; Heiner-Fokkema, M. Rebecca ; van Spronsen, Francjan J.
Publisher:Cham: Springer International Publishing
Journal title:Paediatric drugs, 2019-12, Vol.21 (6), p.413-426
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Treatment adherence in tyrosinemia type 1 patients
Author / Creator:González-Lamuño, Domingo ; Sánchez-Pintos, Paula ; Andrade, Fernando ; Couce, María L. ; Aldámiz-Echevarría, Luís
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-06, Vol.16 (1), p.256-256, Article 256
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Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I
Author / Creator:Gil-Martínez, Jon ; Macias, Iratxe ; Unione, Luca ; Bernardo-Seisdedos, Ganeko ; Lopitz-Otsoa, Fernando ; Fernandez-Ramos, David ; Lain, Ana ; Sanz-Parra, Arantza ; Mato, José M ; Millet, Oscar
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2021-02, Vol.22 (4), p.1789
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Tissue-specific FAH deficiency alters sleep–wake patterns and results in chronic tyrosinemia in mice
Author / Creator:Yang, Shuzhang ; Siepka, Sandra M. ; Cox, Kimberly H. ; Kumar, Vivek ; de Groot, Marleen ; Chelliah, Yogarany ; Chen, Jun ; Tu, Benjamin ; Takahashi, Joseph S.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2019-10, Vol.116 (44), p.22229-22236
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Outcome of children with hereditary tyrosinaemia following newborn screening
Author / Creator:McKiernan, P J ; Preece, Mary Anne ; Chakrapani, Anupam
Publisher:England: BMJ Publishing Group Ltd
Journal title:Archives of disease in childhood, 2015-08, Vol.100 (8), p.738-741
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Early nitisinone treatment reduces the need for liver transplantation in children with tyrosinaemia type 1 and improves post-transplant renal function
Author / Creator:Bartlett, David C. ; Lloyd, Carla ; McKiernan, Patrick J. ; Newsome, Phil N.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2014-09, Vol.37 (5), p.745-752
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Presumptive brain influx of large neutral amino acids and the effect of phenylalanine supplementation in patients with Tyrosinemia type 1
Author / Creator:van Ginkel, Willem G. ; van Vliet, Danique ; Burgerhof, Johannes G. M. ; de Blaauw, Pim ; Rubio Gozalbo, M. Estela ; Heiner-Fokkema, M. Rebecca ; van Spronsen, Francjan J.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2017-09, Vol.12 (9), p.e0185342-e0185342
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Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a day
Author / Creator:Kienstra, Nienke S. ; van Reemst, Hannah E. ; van Ginkel, Willem G. ; Daly, Anne ; van Dam, Esther ; MacDonald, Anita ; Burgerhof, Johannes G. M. ; de Blaauw, Pim ; McKiernan, Patrick J. ; Heiner-Fokkema, M. Rebecca ; van Spronsen, Francjan J.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2018-03, Vol.41 (2), p.181-186
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Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review
Author / Creator:Geppert, Julia ; Stinton, Chris ; Freeman, Karoline ; Fraser, Hannah ; Clarke, Aileen ; Johnson, Samantha ; Sutcliffe, Paul ; Taylor-Phillips, Sian
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2017-09, Vol.12 (1), p.154-154, Article 154
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Tyrosinemia type I and not treatment with NTBC causes slower learning and altered behavior in mice
Author / Creator:Hillgartner, Megan A. ; Coker, Sarah B. ; Koenig, Ashton E. ; Moore, Marissa E. ; Barnby, Elizabeth ; MacGregor, Gordon G.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2016-09, Vol.39 (5), p.673-682
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Natural Protein Tolerance and Metabolic Control in Patients with Hereditary Tyrosinaemia Type 1
Author / Creator:Yilmaz, Ozlem ; Daly, Anne ; Pinto, Alex ; Ashmore, Catherine ; Evans, Sharon ; Gupte, Girish ; Santra, Saikat ; Preece, Mary Anne ; Mckiernan, Patrick ; Kitchen, Steve ; Yabanci Ayhan, Nurcan ; MacDonald, Anita
Publisher:Switzerland: MDPI AG
Journal title:Nutrients, 2020-04, Vol.12 (4), p.1148
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Hereditary Tyrosinemia Type 1 Mice under Continuous Nitisinone Treatment Display Remnants of an Uncorrected Liver Disease Phenotype
Author / Creator:Neuckermans, Jessie ; Lequeue, Sien ; Claes, Paul ; Heymans, Anja ; Hughes, Juliette H. ; Colemonts-Vroninks, Haaike ; Marcélis, Lionel ; Casimir, Georges ; Goyens, Philippe ; Martens, Geert A. ; Gallagher, James A. ; Vanhaecke, Tamara ; Bou-Gharios, George ; De Kock, Joery
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2023-03, Vol.14 (3), p.693
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NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients
Author / Creator:Masurel-Paulet, A. ; Poggi-Bach, J. ; Rolland, M.-O. ; Bernard, O. ; Guffon, N. ; Dobbelaere, D. ; Sarles, J. ; de Baulny, H. Ogier ; Touati, G.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2008-02, Vol.31 (1), p.81-87
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Oxidative Stress, Glutathione Metabolism, and Liver Regeneration Pathways Are Activated in Hereditary Tyrosinemia Type 1 Mice upon Short-Term Nitisinone Discontinuation
Author / Creator:Colemonts-Vroninks, Haaike ; Neuckermans, Jessie ; Marcelis, Lionel ; Claes, Paul ; Branson, Steven ; Casimir, Georges ; Goyens, Philippe ; Martens, Geert A. ; Vanhaecke, Tamara ; De Kock, Joery
Publisher:Switzerland: MDPI
Journal title:Genes, 2020-12, Vol.12 (1), p.3
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Neuropsychological outcome of NTBC‐treated patients with tyrosinaemia type 1
Author / Creator:De Laet, Corinne ; Terrones Munoz, Vanessa ; Jaeken, Jaak ; François, Baudouin ; Carton, Dietbrandt ; Sokal, Etienne M ; Dan, Bernard ; Goyens, Philippe J
Publisher:Oxford, UK: Blackwell Publishing Ltd
Journal title:Developmental medicine and child neurology, 2011-10, Vol.53 (10), p.962-964
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Neonatal screening for hereditary tyrosinaemia: are we there yet?
Author / Creator:Hadžić, Nedim ; Vara, Roshni
Publisher:England: BMJ Publishing Group LTD
Journal title:Archives of disease in childhood, 2015-08, Vol.100 (8), p.720-721
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Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC
Author / Creator:Thimm, Eva ; Richter-Werkle, Renate ; Kamp, Gudrun ; Molke, Bettina ; Herebian, Diran ; Klee, Dirk ; Mayatepek, Ertan ; Spiekerkoetter, Ute
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2012-03, Vol.35 (2), p.263-268
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Deranged Liver Function in a Neonate
Author / Creator:Peake, Roy W A
Publisher:England: Oxford University Press
Journal title:Clinical chemistry (Baltimore, Md.), 2016-11, Vol.62 (11), p.1539-1541
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Showing 1 to 20 of 38 results

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Recommendations for the management of tyrosinaemia type 1

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Evaluation of dynamic thiol/disulfide homeostasis in hereditary tyrosinemia type 1 patients

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Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1

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Treatment adherence in tyrosinemia type 1 patients

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Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I

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Tissue-specific FAH deficiency alters sleep–wake patterns and results in chronic tyrosinemia in mice

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Outcome of children with hereditary tyrosinaemia following newborn screening

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Early nitisinone treatment reduces the need for liver transplantation in children with tyrosinaemia type 1 and improves post-transplant renal function

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Presumptive brain influx of large neutral amino acids and the effect of phenylalanine supplementation in patients with Tyrosinemia type 1

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Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a day

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Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review

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Tyrosinemia type I and not treatment with NTBC causes slower learning and altered behavior in mice

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Natural Protein Tolerance and Metabolic Control in Patients with Hereditary Tyrosinaemia Type 1

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Hereditary Tyrosinemia Type 1 Mice under Continuous Nitisinone Treatment Display Remnants of an Uncorrected Liver Disease Phenotype

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NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients

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Oxidative Stress, Glutathione Metabolism, and Liver Regeneration Pathways Are Activated in Hereditary Tyrosinemia Type 1 Mice upon Short-Term Nitisinone Discontinuation

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Neuropsychological outcome of NTBC‐treated patients with tyrosinaemia type 1

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Neonatal screening for hereditary tyrosinaemia: are we there yet?

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Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC

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Deranged Liver Function in a Neonate

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